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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 20-63278143-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63278143&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63278143,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018209.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "NM_018209.4",
"protein_id": "NP_060679.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 406,
"cds_start": 470,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": "ENST00000370283.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "ENST00000370283.9",
"protein_id": "ENSP00000359306.4",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 406,
"cds_start": 470,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": "NM_018209.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "ENST00000353546.7",
"protein_id": "ENSP00000314615.3",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 414,
"cds_start": 470,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "ENST00000370275.8",
"protein_id": "ENSP00000359298.4",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 403,
"cds_start": 470,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "NM_175609.3",
"protein_id": "NP_783202.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 414,
"cds_start": 470,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "NM_001281482.2",
"protein_id": "NP_001268411.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 403,
"cds_start": 470,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Ile",
"transcript": "NM_001281483.2",
"protein_id": "NP_001268412.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 361,
"cds_start": 311,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Ile",
"transcript": "ENST00000519604.5",
"protein_id": "ENSP00000430500.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 361,
"cds_start": 311,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Thr83Ile",
"transcript": "ENST00000547204.5",
"protein_id": "ENSP00000449800.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 340,
"cds_start": 248,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Ile",
"transcript": "NM_001281484.2",
"protein_id": "NP_001268413.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 293,
"cds_start": 131,
"cds_end": null,
"cds_length": 882,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Ile",
"transcript": "ENST00000519273.6",
"protein_id": "ENSP00000443716.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 293,
"cds_start": 131,
"cds_end": null,
"cds_length": 882,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Thr83Ile",
"transcript": "ENST00000549047.5",
"protein_id": "ENSP00000447037.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 270,
"cds_start": 248,
"cds_end": null,
"cds_length": 814,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "ENST00000522403.6",
"protein_id": "ENSP00000430929.2",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 260,
"cds_start": 470,
"cds_end": null,
"cds_length": 784,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Thr83Ile",
"transcript": "ENST00000518601.6",
"protein_id": "ENSP00000429674.2",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 243,
"cds_start": 248,
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"cds_length": 732,
"cdna_start": 421,
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"cdna_length": 905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "XM_011528901.2",
"protein_id": "XP_011527203.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 416,
"cds_start": 470,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "XM_017027950.2",
"protein_id": "XP_016883439.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
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"cds_start": 470,
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"cdna_start": 601,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "XM_047440287.1",
"protein_id": "XP_047296243.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 406,
"cds_start": 470,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "XM_006723823.3",
"protein_id": "XP_006723886.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 404,
"cds_start": 470,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "XM_047440288.1",
"protein_id": "XP_047296244.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 404,
"cds_start": 470,
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"cdna_start": 1072,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "XM_047440289.1",
"protein_id": "XP_047296245.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 345,
"cds_start": 470,
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"cdna_start": 582,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "XM_047440290.1",
"protein_id": "XP_047296246.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 345,
"cds_start": 470,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "XM_047440291.1",
"protein_id": "XP_047296247.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 335,
"cds_start": 470,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "n.566C>T",
"hgvs_p": null,
"transcript": "ENST00000519531.5",
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "ARFGAP1",
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"hgvs_c": "c.42+2521C>T",
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"transcript": "ENST00000523460.5",
"protein_id": "ENSP00000429770.1",
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}
],
"gene_symbol": "ARFGAP1",
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"dbsnp": null,
"frequency_reference_population": 0.0000027370716,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273707,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1356898546218872,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.1176,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.292,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018209.4",
"gene_symbol": "ARFGAP1",
"hgnc_id": 15852,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}